14 research outputs found

    Falls in People with Multiple Sclerosis

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    No embargo required.Abstract Falls are highly prevalent in people with multiple sclerosis (MS) and result in a range of negative consequences, such as injury, activity curtailment, reduced quality of life, and increased need for care and time off work. This narrative review aims to summarize key literature and to discuss future work needed in the area of fall prevention for people with MS. The incidence of falls in people with MS is estimated to be more than 50%, similar to that in adults older than 80 years. The consequences of falls are considerable because rate of injury is high, and fear of falling and low self-efficacy are significant problems that lead to activity curtailment. A wide range of physiological, personal, and environmental factors have been highlighted as potential risk factors and predictors of falls. Falls are individual and multifactorial, and, hence, approaches to interventions will likely need to adopt a multifactorial approach. However, the literature to date has largely focused on exercise-based interventions, with newer, more comprehensive interventions that use both education and exercise showing promising results. Several gaps in knowledge of falls in MS remain, in particular the lack of standardized definitions and outcome measures, to enable data pooling and comparison. Moving forward, the involvement of people with MS in the design and evaluation of programs is essential, as are approaches to intervention development that consider implementation from the outset.</jats:p

    Real-World Goal Setting and Use of Outcome Measures According to the International Classification of Functioning, Disability and Health: A European Survey of Physical Therapy Practice in Multiple Sclerosis

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    Goal setting is a core component of physical therapy in multiple sclerosis (MS). It is unknown whether and to what extent goals are set at different levels of the International Classification of Functioning, Disability and Health (ICF), and whether, and to which, standardized outcome measures are used in real life for evaluation at the different ICF levels. Our aim was to describe the real-world use of goal setting and outcome measures in Europe. An online cross-sectional survey, completed by 212 physical therapists (PTs) specialized in MS from 26 European countries, was conducted. Differences between European regions and relationships between goals and assessments were analyzed. PTs regularly set goals, but did not always apply the Specific, Measurable, Achievable, Realistic, Timed (SMART) criteria. Regions did not differ in the range of activities assessed, but in goals set (e.g., Western and Northern regions set significantly more goals regarding leisure and work) and outcome measures used (e.g., the Berg Balance Scale was more frequently used in Northern regions). Quality of life was not routinely assessed, despite being viewed as an important therapy goal. Discrepancies existed both in goal setting and assessment across European regions. ICF assists in understanding these discrepancies and in guiding improved health-care for the future.</jats:p

    Babelomics: an integrative platform for the analysis of transcriptomics, proteomics and genomic data with advanced functional profiling

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    Babelomics is a response to the growing necessity of integrating and analyzing different types of genomic data in an environment that allows an easy functional interpretation of the results. Babelomics includes a complete suite of methods for the analysis of gene expression data that include normalization (covering most commercial platforms), pre-processing, differential gene expression (case-controls, multiclass, survival or continuous values), predictors, clustering; large-scale genotyping assays (case controls and TDTs, and allows population stratification analysis and correction). All these genomic data analysis facilities are integrated and connected to multiple options for the functional interpretation of the experiments. Different methods of functional enrichment or gene set enrichment can be used to understand the functional basis of the experiment analyzed. Many sources of biological information, which include functional (GO, KEGG, Biocarta, Reactome, etc.), regulatory (Transfac, Jaspar, ORegAnno, miRNAs, etc.), text-mining or protein–protein interaction modules can be used for this purpose. Finally a tool for the de novo functional annotation of sequences has been included in the system. This provides support for the functional analysis of non-model species. Mirrors of Babelomics or command line execution of their individual components are now possible. Babelomics is available at http://www.babelomics.org

    Searching for the “Active Ingredients” in Physical Rehabilitation Programs Across Europe, Necessary to Improve Mobility in People With Multiple Sclerosis: A Multicenter Study

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    Background. Physical rehabilitation programs can lead to improvements in mobility in people with multiple sclerosis (PwMS). Objective: Identify which rehabilitation program elements are employed in real life and how they might impact mobility improvement in PwMS. Methods. Participants were divided into improved and non-improved mobility groups based on changes observed in the Multiple Sclerosis Walking Scale-12 following multimodal physical rehabilitation programs. Analyses were performed at group and subgroup (mild and moderate-severe disability) levels. Rehabilitation program elements included: setting; number of weeks; number of sessions; total duration, therapy format (individual, group, autonomous), therapy goals and therapeutic approaches. Results. The study comprised 279 PwMS from 17 European centers. PwMS in the improved group received more sessions of individual therapy in both subgroups. In the mildly disabled group, 60.9% of the improved received resistance training, whereas, 68.5% of the non-improved, received self-stretching. In the moderatelyseverely disabled group, 31.4% of the improved, received aerobic training, while 50.4% of the non-improved, received passive mobilization/stretching. Conclusions. We believe that our findings are an important step in opening the black-box of physical rehabilitation, imparting guidance and assisting future research in defining characteristics of effective physical rehabilitation

    Initial Genomics of the Human Nucleolus

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    We report for the first time the genomics of a nuclear compartment of the eukaryotic cell. 454 sequencing and microarray analysis revealed the pattern of nucleolus-associated chromatin domains (NADs) in the linear human genome and identified different gene families and certain satellite repeats as the major building blocks of NADs, which constitute about 4% of the genome. Bioinformatic evaluation showed that NAD–localized genes take part in specific biological processes, like the response to other organisms, odor perception, and tissue development. 3D FISH and immunofluorescence experiments illustrated the spatial distribution of NAD–specific chromatin within interphase nuclei and its alteration upon transcriptional changes. Altogether, our findings describe the nature of DNA sequences associated with the human nucleolus and provide insights into the function of the nucleolus in genome organization and establishment of nuclear architecture

    Finishing the euchromatic sequence of the human genome

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    The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

    The impact of the COVID-19 pandemic on physical activity and associated technology use in persons with multiple sclerosis: an international RIMS-SIG Mobility survey study.

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    Objective To investigate the impact of the COVID-19 pandemic on physical activity (PA) in persons with multiple sclerosis (PwMS). Design and Setting A multi-centre international online survey study was conducted within 11 participating countries. Each country launched the survey using online platforms from May to July 2021. Participants This was an electronic survey study targeting PwMS. Intervention Not applicable. Outcome measures The survey ascertained PA performance and its intensity, the nature of the activities conducted and the use of technology to support home-based physical activity before and during the pandemic. Results 3725 respondents completed the survey. Pre-pandemic, the majority (83%) of respondents reported being physically active, and this decreased to 75% during the pandemic. This change was significant for moderate and high intensity activity (p<.0001). Activities carried out in physiotherapy centres, gyms or pools decreased the most. Walking was the most frequently performed activity pre-pandemic (27%) and increased during the pandemic (33%). 24% of those inactive during the pandemic had no intention of changing their PA behaviour post-pandemic. 58% of the respondents did not use technology to support PA during the pandemic. Of those who did use technology, wearables were most used (24%). Of those currently non-active (25%) expressed a preference for an in-person format to conduct PA post-pandemic. Conclusion PA performance, especially activities at moderate and high intensities, decreased during the pandemic in PwMS compared to pre-pandemic. Walking and using wearables gained popularity to stay active. As we move towards an endemic-COVID-19, a call for action to develop interventions focused on walking programmes, with specific emphasis on increasing PA of persons with MS is proposed
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